Cardinal Signs
20 Mar 2025
Venue:
Los Angeles Convention Centre
Meeting Room:
502 AB
Clinical Genetics and Therapeutics
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Accredited:
- Accredited
Despite increasing utility of next generation molecular analysis, there continues to be a role for clinical evaluation as a part of the patient assessment. Not every disorder has been molecularly characterized, nor does next generation sequencing always identify the causal variant (s). As a result, there is still a role for discussion of clinical manifestations and cardinal signs of conditions potentially encountered in the clinic. This session will provide information on the cardinal manifestations, as well as the natural history, differential diagnoses, and cause (if known) of four selected disorders.
Learning Objectives
- Identify the distinctive craniofacial and radiographic features of Raine syndrome
- Recognize the range of clinical presentations of collagen type IV vasculopathies, and that carriers of pathogenic variants
- Identify those individuals with differences of sex development who are likely to have a pathogenic variant in MYRF
- Identify the typical craniofacial and limb findings in Jansem de Vries syndrome and appreciate the prevalence of cyclic vomiting and migraine
Agenda
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Welcome and Introduction4:00 PM – 4:02 PM -
Raine Syndrome4:02 PM – 4:15 PM -
Decoding COL4A1-VD: The Genetic Puzzle Behind Discrepancies in Literature and Biobank Phenotypes4:15 PM – 4:28 PM -
MYRF-Related Cardiac-Urogenital Syndrome4:28 PM – 4:41 PM -
Jansen de Vries Syndrome4:41 PM – 4:54 PM -
Panel DiscussionPanel Discussion and Q&A4:54 PM – 5:00 PM
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